Variant report

Variant	nsv969235
Chromosome Location	chr5:94206105-94212142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94205159..94207112-chr5:94208983..94211350,2	K562	blood:
2	chr5:94205159..94207112-chr5:94208983..94211350,2	K562	blood:
3	chr5:94202239..94204234-chr5:94204961..94206790,2	K562	blood:
4	chr5:94201284..94203096-chr5:94204647..94207071,2	K562	blood:
5	chr5:94141467..94144189-chr5:94211080..94213716,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373359985	chr5:94206111-94206112	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141690418	chr5:94206125-94206126	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375826785	chr5:94206155-94206156	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202198042	chr5:94206180-94206181	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs159032	chr5:94206202-94206203	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189269608	chr5:94206352-94206353	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578126302	chr5:94206365-94206366	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150255676	chr5:94206384-94206385	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs293058	chr5:94206390-94206391	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573857990	chr5:94206430-94206431	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112312410	chr5:94206439-94206440	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542956940	chr5:94206442-94206443	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181683198	chr5:94206448-94206449	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113817989	chr5:94206472-94206473	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374661419	chr5:94206561-94206562	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368220274	chr5:94206588-94206589	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531243750	chr5:94206594-94206595	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550941007	chr5:94206629-94206630	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186960588	chr5:94206631-94206632	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371946729	chr5:94206651-94206652	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137979343	chr5:94206652-94206653	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149484071	chr5:94206691-94206692	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368173879	chr5:94206702-94206703	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375940713	chr5:94206711-94206712	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372698002	chr5:94206712-94206713	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375910493	chr5:94206713-94206714	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2277012	chr5:94206714-94206715	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373123267	chr5:94206719-94206720	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147128927	chr5:94206721-94206722	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376909883	chr5:94206723-94206724	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374746349	chr5:94206726-94206727	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549737509	chr5:94206729-94206730	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546305621	chr5:94206730-94206731	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566458785	chr5:94206739-94206740	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138674719	chr5:94206833-94206834	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538268837	chr5:94206944-94206945	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558153975	chr5:94206946-94206947	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201600301	chr5:94206958-94206959	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78638695	chr5:94206959-94206960	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578044070	chr5:94206962-94206963	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397977362	chr5:94206970-94206971	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199886652	chr5:94206972-94206973	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374559268	chr5:94206973-94206974	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375403332	chr5:94207059-94207060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145448158	chr5:94207063-94207064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376963945	chr5:94207112-94207113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115666661	chr5:94207119-94207120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370739097	chr5:94207146-94207147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191399605	chr5:94207197-94207198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115516851	chr5:94207310-94207311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94163800-94209800	Weak transcription	Dnd41	blood
2	chr5:94165000-94240800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:94165800-94206200	Weak transcription	Adipose Nuclei	Adipose
4	chr5:94181200-94209400	Weak transcription	GM12878-XiMat	blood
5	chr5:94183200-94206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:94186400-94208000	Weak transcription	Fetal Thymus	thymus
7	chr5:94191000-94232200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:94194000-94209200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:94197800-94206200	Weak transcription	HUVEC	blood vessel
10	chr5:94199800-94206200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:94200600-94208200	Weak transcription	Hela-S3	cervix
12	chr5:94200800-94236600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:94202600-94211000	Weak transcription	Primary T cells from cord blood	blood
14	chr5:94203200-94206200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:94203200-94206800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:94203200-94208400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:94203400-94208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:94204200-94206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:94204200-94207600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:94204400-94240600	Weak transcription	Lung	lung
21	chr5:94204800-94208400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:94205400-94206600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:94205600-94206200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:94205600-94206600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:94205600-94207000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:94205600-94207000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:94205600-94207000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr5:94205600-94207200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:94205600-94208600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:94205800-94206200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:94205800-94206800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:94205800-94206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:94206200-94206600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:94206200-94206800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:94206200-94206800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:94206200-94206800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:94206200-94206800	Strong transcription	Adipose Nuclei	Adipose
38	chr5:94206200-94207000	Strong transcription	HUVEC	blood vessel
39	chr5:94206200-94207200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:94206400-94207200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:94206400-94207200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:94206800-94207000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:94206800-94208800	Weak transcription	Adipose Nuclei	Adipose
44	chr5:94206800-94209000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:94206800-94211000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:94206800-94230000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:94207000-94208200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:94207000-94208600	Weak transcription	HUVEC	blood vessel
49	chr5:94207000-94210000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:94207000-94227000	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links